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Chiari I Malformation in Nephropathic Cystinosis
Kavya I Rao1, John Hesselink2, Doris A Trauner3
1Department of Neurosciences, University of California, San Diego School of Medicine, La Jolla, CA.
The Journal of Pediatrics
|August 13, 2015
Summary
Children with cystinosis have a significantly higher incidence of Chiari I malformations, a serious brain condition. Early MRI screening is recommended for these patients presenting with neurological symptoms.
Area of Science:
- Pediatric Neurology
- Medical Genetics
Background:
- Cystinosis is a rare genetic disorder leading to lysosomal accumulation of cystine.
- Neurological complications can arise in cystinosis patients, but their specific associations are not fully understood.
Purpose of the Study:
- To investigate the prevalence of Chiari I malformations in children diagnosed with nephropathic cystinosis.
- To compare this prevalence against the general pediatric population.
Main Methods:
- Magnetic resonance imaging (MRI) was utilized to assess 53 children with cystinosis and 120 age-matched controls (ages 3-18).
- Standardized imaging protocols were applied to evaluate for Chiari I malformation and tonsillar ectopia.
Main Results:
- A significantly higher incidence of Chiari I malformation was observed in patients with cystinosis (18.9%) compared to controls (1.6%).
- At least two patients exhibited symptoms potentially linked to the malformation, with one requiring surgical intervention.
- Two patients were diagnosed with an associated cervical syrinx, a fluid-filled cavity within the spinal cord.
Conclusions:
- Children with cystinosis exhibit a 12-fold increased prevalence of Chiari I malformations.
- Chiari I malformation should be considered in the differential diagnosis for cystinosis patients with new neurological signs.
- Prompt MRI is advised for cystinosis patients presenting with symptoms like headache, ataxia, or incontinence.
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